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Gs223

From SNPedia
Gs223
Magnitude 2.1
Repute Bad
Summary One copy of GCH1 variant associated with lower levels of tetrahydrobiopterin
Criteria Gs223/criteria


You have one copy of GCH1 variant associated with lower levels of tetrahydrobiopterin. Those with two copies of this haplotype will likely have somewhat reduced levels of tetrahydrobiopterin

GCH1 haplotype determines vascular and plasma biopterin availability in coronary artery disease effects on vascular superoxide production and endothelial function. The haplotype rs10483639(C)-rs3783641(A)-rs8007267(T) is associated with lower levels of tetrahydrobiopterin.[PMID 18598896]

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